Lysosomal storage disorders in Thailand: the Siriraj experience.

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dc.contributor.authorWasant, Pen_US
dc.contributor.authorWattanaweeradej, Sen_US
dc.contributor.authorRaksadawan, Nen_US
dc.contributor.authorKolodny, E Hen_US
dc.date.accessioned2009-05-27T15:45:43Z
dc.date.available2009-05-27T15:45:43Z
dc.date.issued1995-03-01en_US
dc.descriptionThe Southeast Asian Journal of Tropical Medicine and Public Health.en_US
dc.description.abstractLysosomal storage disorders are a heterogeneous group of biochemical genetic disorders; currently 40-50 are known. The clinical phenotype is determined by the tissue distribution of the storage material and degree of enzyme deficiency. The genetic transmission is mostly autosomal recessive. Lysosomal storage disorders can be divided into three groups according to the major organ system pathology: (1) Primary involvement of the central nervous system without significant somatic or skeletal pathology. Disorders of grey matter, eg gangliosidosis and disorders of white matter eg the leucodystrophy are the most common; (2) Primary involvement of the reticuloendothelial system with or without associated neuropathology, eg Niemann-Pick disease and Gaucher disease; (3) Multisystem involvement in which skeletal manifestations are prominent features. The mucopolysaccharidosis and mucolipidoses are the two major forms with this clinical phenotype. Lysosomal storage disorders identified at Siriraj Hospital are neuronal ceroid lipofuscinosis, GMI gangliosidosis, mucolipidosis II, Maroteaux-Lamy, sialidosis, Sly syndrome, Hunter syndrome, Morquio syndrome, Gaucher disease, Niemann-Pick, Sandhoff disease, Pompe's disease and many more. Most patients came from the provinces where consanguinity is common. Confirmation usually is done by enzyme assays using skin fibroblast culture or leucocytes. Genetic counseling is extremely important and prenatal diagnosis is recommended to high-risk couple.en_US
dc.description.affiliationDepartment of Pediatrics, Siriraj Hospital Medical School, Mahidol University, Bangkok, Thailand.en_US
dc.identifier.citationWasant P, Wattanaweeradej S, Raksadawan N, Kolodny EH. Lysosomal storage disorders in Thailand: the Siriraj experience. The Southeast Asian Journal of Tropical Medicine and Public Health. 1995 ; 26 Suppl 1(): 54-8en_US
dc.identifier.urihttps://imsear.searo.who.int/handle/123456789/33597
dc.language.isoengen_US
dc.source.urihttps://www.tm.mahidol.ac.th/seameo/publication.htmen_US
dc.subject.meshChilden_US
dc.subject.meshChild, Preschoolen_US
dc.subject.meshFemaleen_US
dc.subject.meshGangliosidosis, GM1 --diagnosisen_US
dc.subject.meshGaucher Disease --diagnosisen_US
dc.subject.meshHumansen_US
dc.subject.meshInfanten_US
dc.subject.meshLysosomal Storage Diseases --classificationen_US
dc.subject.meshMaleen_US
dc.subject.meshMucolipidoses --diagnosisen_US
dc.subject.meshMucopolysaccharidosis II --diagnosisen_US
dc.subject.meshMucopolysaccharidosis VI --diagnosisen_US
dc.subject.meshMucopolysaccharidosis VII --diagnosisen_US
dc.subject.meshNeuronal Ceroid-Lipofuscinoses --diagnosisen_US
dc.subject.meshRetrospective Studiesen_US
dc.subject.meshSandhoff Disease --diagnosisen_US
dc.subject.meshSyndromeen_US
dc.subject.meshThailanden_US
dc.titleLysosomal storage disorders in Thailand: the Siriraj experience.en_US
dc.typeCase Reportsen_US
dc.typeJournal Articleen_US
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